性连锁性耳聋：重温王尔德
Sex linked deafness: Wilde revisited.
作者信息
Reardon W
机构信息
Mothercare Department of Pediatric Genetics, Institute of Child Health, London.
出版信息
J Med Genet. 1990 Jun;27(6):376-9. doi: 10.1136/jmg.27.6.376.
Abstract
Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in 1851. Reevaluation of this survey of 1851 confirms sex linked deafness as a factor in the disproportionate number of deaf males and suggests that 5% of congenital male deafness was the result of sex linked recessive deafness. This study confirms that a small but constant proportion of male deafness is the result of sex linked recessive deafness. The figure derived is used to calculate an empirical risk for carrier status in female sibs of isolated cases of male deafness.
摘要
性连锁隐性聋是男性遗传性聋的一种罕见病因，据估计在1966年占男性遗传性聋的6.2%。1851年在爱尔兰的聋人人群中发现男性患者过多。对1851年这项调查的重新评估证实，性连锁聋是导致男性聋人比例过高的一个因素，并表明5%的先天性男性聋是性连锁隐性聋所致。本研究证实，一小部分但比例恒定的男性聋是性连锁隐性聋的结果。由此得出的数据用于计算男性聋孤立病例女性同胞携带者状态的经验风险。
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The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.与镫骨手术中出现外淋巴瘘的X连锁进行性混合性耳聋（DFN3）相关的基因与磷酸甘油酸激酶基因（PGK）有关。
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